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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MKLN1
muskelin 1
Chromosome 7 · 7q32.3
NCBI Gene: 4289Ensembl: ENSG00000128585.18HGNC: HGNC:7109UniProt: B4DG30
64PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ubiquitin ligase complexprotein bindingcytoplasmidentical protein bindingaortic stenosisneurodegenerative diseaseskin agingandrogenetic alopecia
✦AI Summary

MKLN1 (muskelin 1) is a component of the CTLH E3 ubiquitin-protein ligase complex with multiple cellular functions. As part of the CTLH complex, MKLN1 mediates ubiquitin-dependent proteasomal degradation of specific substrates. It directly binds FAM72A to target uracil-DNA glycosylase 2 (UNG2) for degradation, promoting mutagenic DNA repair in both immune cells and cancer 12. Additionally, MKLN1 and its binding partner ZMYND19 localize to lysosomal outer membranes to negatively regulate mTORC1 by blocking interactions between mTORC1 and its activator Rheb and substrates S6 and 4E-BP1, enabling rapid tuning of mTOR signaling 3. Beyond ubiquitin-ligase functions, MKLN1 mediates cell spreading and cytoskeletal responses to extracellular matrix components. Genome-wide association studies identified MKLN1 as a colorectal cancer susceptibility gene, with variants associated with reduced cancer risk 4. Its antisense RNA, MKLN1-AS, acts as an oncogenic lncRNA in hepatocellular carcinoma, where it is transcriptionally regulated by SOX9 and stabilizes YAP1 mRNA to promote proliferation and epithelial-mesenchymal transition 56. Circular MKLN1 transcripts demonstrate tumor-suppressive roles in retinoblastoma 7, highlighting context-dependent biological significance across cancer types.

Sources cited
1
MKLN1 is a CTLH E3 ligase substrate that associates with lysosomal membranes to inhibit mTORC1 by blocking mTORC1-Rheb and mTORC1-substrate interactions
PMID: 41315365
2
MKLN1 genetic variants are associated with colorectal cancer susceptibility in genome-wide association studies
PMID: 40369569
3
MKLN1 directly binds FAM72A within the CTLH complex to recruit and ubiquitinate UNG2 for proteasomal degradation, promoting mutagenic repair
PMID: 39215025
4
FAM72A acts as substrate adaptor of the CTLH-MKLN1 E3 ligase to degrade UNG2 in human cells, contributing to mutagenesis in various cancer types
PMID: 40604025
5
MKLN1-AS lncRNA is transcriptionally regulated by SOX9 and mediates SOX9's effects on hepatocellular carcinoma proliferation and epithelial-mesenchymal transition
PMID: 35138470
6
MKLN1-AS upregulation is associated with poor prognosis in hepatocellular carcinoma and promotes proliferation, migration, and invasion via YAP1 mRNA stabilization
PMID: 33878313
7
Circular MKLN1 plays a tumor-suppressive role in retinoblastoma
PMID: 36547723
Disease Associationsⓘ20
aortic stenosisOpen Targets
0.38Weak
neurodegenerative diseaseOpen Targets
0.37Weak
skin agingOpen Targets
0.35Weak
androgenetic alopeciaOpen Targets
0.35Weak
hypertrophic cardiomyopathyOpen Targets
0.32Weak
cutaneous melanomaOpen Targets
0.30Weak
hair colorOpen Targets
0.29Weak
sinoatrial node disorderOpen Targets
0.27Weak
myeloproliferative disorderOpen Targets
0.27Weak
hypertensionOpen Targets
0.27Weak
placenta praeviaOpen Targets
0.27Weak
alopeciaOpen Targets
0.26Weak
spermatoceleOpen Targets
0.25Weak
pernicious anemiaOpen Targets
0.25Weak
COVID-19Open Targets
0.25Weak
severe acute respiratory syndromeOpen Targets
0.25Weak
idiopathic pulmonary fibrosisOpen Targets
0.20Weak
dislocationOpen Targets
0.19Weak
polycythemia veraOpen Targets
0.19Weak
essential thrombocythemiaOpen Targets
0.19Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RANBP9Protein interaction100%RANBP10Protein interaction100%RMND5AProtein interaction100%WDR26Protein interaction100%GID8Protein interaction100%ARMC8Protein interaction99%
Tissue Expression6 tissues
Heart
100%
Brain
98%
Lung
79%
Ovary
74%
Bone Marrow
73%
Liver
56%
Gene Interaction Network
Click a node to explore
MKLN1RANBP9RANBP10RMND5AWDR26GID8ARMC8
PROTEIN STRUCTURE
Preparing viewer…
PDB8TTQ · 3.27 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.44Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.28 [0.18–0.44]
RankingsWhere MKLN1 stands among ~20K protein-coding genes
  • #7,293of 20,598
    Most Researched64
  • #2,438of 17,882
    Most Constrained (LOEUF)0.44 · top quartile
Genes detectedMKLN1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The CTLH ubiquitin ligase substrates ZMYND19 and MKLN1 negatively regulate mTORC1 at the lysosomal membrane.
PMID: 41315365
Nat Commun · 2025
1.00
2
Identification of MMP14 and MKLN1 as colorectal cancer susceptibility genes and drug-repositioning candidates from a genome-wide association study.
PMID: 40369569
J Transl Med · 2025
0.90
3
Sequence Alignment between
PMID: 38929849
J Pers Med · 2024
0.80
4
FAM72A degrades UNG2 through the GID/CTLH complex to promote mutagenic repair during antibody maturation.
PMID: 39215025
Nat Commun · 2024
0.70
5
SOX9/MKLN1-AS Axis Induces Hepatocellular Carcinoma Proliferation and Epithelial-Mesenchymal Transition.
PMID: 35138470
Biochem Genet · 2022
0.60